Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA MPL Causal CTD Disgenet GenCC Orphanet
THPO Unknown ClinGen Disgenet GWAS catalog HPO Orphanet
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 MPL Causal ClinGen ClinVar Disgenet